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Purpose <p>The electronegative electroretinogram (ERG) is a specific clinical finding usually indicating inner retinal dysfunction occurring post-phototransduction. X-linked retinoschisis (XLRS) and complete and incomplete congenital stationary night blindness (cCSNB, iCSNB) are inherited retinal dystrophies classically associated with electronegative ERGs. Comparing the full-field ERG b:a ratio expands current ERG diagnostic criteria and aids in localising physiological sites and pathological mechanisms.</p> Methods <p>A retrospective review of patients with a clinical diagnosis of iCSNB, cCSNB and XLRS was conducted. ERG and genetic results were analysed. Average b:a ratios between groups were compared, and prevalence of electropositivity was assessed using thresholds of b:a &gt; 1.0 and b:a &gt; 1.50.</p> Results <p>53 patients were included, and genetic confirmation was available in 7/24 iCSNB, 3/14 cCSNB and 11/15 XLRS patients respectively. In genetically proven cases, mean b:a ratio in XLRS patients (b:a = 1.04) was significantly higher than cCSNB (b:a = 0.60, <i>p</i> &lt; 0.001) and iCSNB (b:a = 0.60, <i>p</i> &lt; 0.001). An electropositive ERG was significantly more likely to be associated with RS1 than iCSNB (<i>p</i> &lt; 0.001) or cCSNB (<i>p</i> = 0.001) at b:a &gt; 1.0 threshold, and more likely RS1 than iCSNB (<i>p</i> = 0.040) at b:a &gt; 1.5 threshold.</p> Conclusion <p>Our study highlights the distinct ERG findings between these typically electronegative inner retinal dystrophies. In a clinical setting, the traditional electronegative definition of b:a &lt; 1.0 appears very insensitive to detect XLRS patients. Our data suggests clinical suspicion should remain even in patients with a b:a ratio &gt; 1.50, and highlights the importance of genetic testing in these cases.</p>

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Understanding the phenotype of genetically associated electronegative ERG retinopathies: comparing the full-field ERG b:a ratio

  • 期刊论文

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  • 发表日期：

    2025年5月29日

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  • Christopher A. Ovens,
  • Elisa E. Cornish,
  • Haipha Ali,
  • Vannessa Leung,
  • Dhimas H. Sakti,
  • Nonna Saakova,
  • Marium Raza,
  • Benjamin M. Nash,
  • Clare L. Fraser,
  • Peter McCluskey,
  • Robyn V. Jamieson,
  • John R. Grigg

摘要

Purpose

The electronegative electroretinogram (ERG) is a specific clinical finding usually indicating inner retinal dysfunction occurring post-phototransduction. X-linked retinoschisis (XLRS) and complete and incomplete congenital stationary night blindness (cCSNB, iCSNB) are inherited retinal dystrophies classically associated with electronegative ERGs. Comparing the full-field ERG b:a ratio expands current ERG diagnostic criteria and aids in localising physiological sites and pathological mechanisms.

Methods

A retrospective review of patients with a clinical diagnosis of iCSNB, cCSNB and XLRS was conducted. ERG and genetic results were analysed. Average b:a ratios between groups were compared, and prevalence of electropositivity was assessed using thresholds of b:a > 1.0 and b:a > 1.50.

Results

53 patients were included, and genetic confirmation was available in 7/24 iCSNB, 3/14 cCSNB and 11/15 XLRS patients respectively. In genetically proven cases, mean b:a ratio in XLRS patients (b:a = 1.04) was significantly higher than cCSNB (b:a = 0.60, p < 0.001) and iCSNB (b:a = 0.60, p < 0.001). An electropositive ERG was significantly more likely to be associated with RS1 than iCSNB (p < 0.001) or cCSNB (p = 0.001) at b:a > 1.0 threshold, and more likely RS1 than iCSNB (p = 0.040) at b:a > 1.5 threshold.

Conclusion

Our study highlights the distinct ERG findings between these typically electronegative inner retinal dystrophies. In a clinical setting, the traditional electronegative definition of b:a < 1.0 appears very insensitive to detect XLRS patients. Our data suggests clinical suspicion should remain even in patients with a b:a ratio > 1.50, and highlights the importance of genetic testing in these cases.